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AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2018

Guan Qiaoning, Balciuniene Jorune, Cao Kajia, Fan Zhiqian, Biswas Sawona, Wilkens Alisha, Gallo Daniel J, Bedoukian Emma, Tarpinian Jennifer, Jayaraman Pushkala, Sarmady Mahdi, Dulik Matthew, Santani Avni, Spinner Nancy, Abou Tayoun Ahmad N, Krantz Ian D, Conlin Laura K, Luo Minjie

Abstract excerpt

PURPOSE: Hereditary hearing loss is highly heterogeneous. To keep up with rapidly emerging disease-causing genes, we developed the AUDIOME test for nonsyndromic hearing loss (NSHL) using an exome sequencing (ES) platform and targeted analysis for the curated genes. METHODS: A tiered strategy was implemented for this test. Tier 1 includes combined Sanger and targeted deletion analyses of the two most common NSHL...

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Exome
Exome Sequencing
Genetic Predisposition to Disease
Hearing Loss, Sensorineural

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

High-Throughput Nucleotide Sequencing

Pathology, Molecular

Polymorphism, Single Nucleotide

Sequence Analysis, DNA

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PMID: 29595809
DOI: 10.1038/gim.2018.48

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